Incidental Mutation 'IGL02413:Ctnnal1'
| ID |
292333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctnnal1
|
| Ensembl Gene |
ENSMUSG00000038816 |
| Gene Name |
catenin alpha like 1 |
| Synonyms |
Catnal1, catenin (cadherin associated protein), alpha-like 1, ACRP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56835306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 324
(V324F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045142]
|
| AlphaFold |
O88327 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045142
AA Change: V324F
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: V324F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:Vinculin
|
30 |
309 |
7e-39 |
PFAM |
|
Pfam:Vinculin
|
302 |
526 |
1.7e-12 |
PFAM |
|
Pfam:Vinculin
|
531 |
683 |
5.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154511
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and exhibit no overt phenotypes or defects in hematopoiesis and hematopoietic stem cell function. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(111) : Targeted, other(2) Gene trapped(109)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
| Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
Het |
|
| Other mutations in Ctnnal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00756:Ctnnal1
|
APN |
4 |
56,829,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01404:Ctnnal1
|
APN |
4 |
56,829,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Ctnnal1
|
APN |
4 |
56,835,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02618:Ctnnal1
|
APN |
4 |
56,817,060 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03109:Ctnnal1
|
APN |
4 |
56,839,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03159:Ctnnal1
|
APN |
4 |
56,844,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03208:Ctnnal1
|
APN |
4 |
56,813,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03250:Ctnnal1
|
APN |
4 |
56,812,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
NA:Ctnnal1
|
UTSW |
4 |
56,817,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0217:Ctnnal1
|
UTSW |
4 |
56,813,230 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0391:Ctnnal1
|
UTSW |
4 |
56,847,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Ctnnal1
|
UTSW |
4 |
56,835,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0582:Ctnnal1
|
UTSW |
4 |
56,813,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Ctnnal1
|
UTSW |
4 |
56,847,971 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1638:Ctnnal1
|
UTSW |
4 |
56,813,856 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1760:Ctnnal1
|
UTSW |
4 |
56,838,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Ctnnal1
|
UTSW |
4 |
56,812,534 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1954:Ctnnal1
|
UTSW |
4 |
56,817,242 (GRCm39) |
splice site |
probably benign |
|
|
R2050:Ctnnal1
|
UTSW |
4 |
56,835,350 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2104:Ctnnal1
|
UTSW |
4 |
56,812,329 (GRCm39) |
makesense |
probably null |
|
|
R3104:Ctnnal1
|
UTSW |
4 |
56,813,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3106:Ctnnal1
|
UTSW |
4 |
56,813,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3918:Ctnnal1
|
UTSW |
4 |
56,865,000 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4705:Ctnnal1
|
UTSW |
4 |
56,812,579 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4757:Ctnnal1
|
UTSW |
4 |
56,847,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Ctnnal1
|
UTSW |
4 |
56,847,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Ctnnal1
|
UTSW |
4 |
56,847,854 (GRCm39) |
nonsense |
probably null |
|
|
R5771:Ctnnal1
|
UTSW |
4 |
56,826,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5974:Ctnnal1
|
UTSW |
4 |
56,817,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Ctnnal1
|
UTSW |
4 |
56,812,349 (GRCm39) |
missense |
probably benign |
|
|
R6129:Ctnnal1
|
UTSW |
4 |
56,829,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6389:Ctnnal1
|
UTSW |
4 |
56,813,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Ctnnal1
|
UTSW |
4 |
56,817,299 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7372:Ctnnal1
|
UTSW |
4 |
56,826,285 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7454:Ctnnal1
|
UTSW |
4 |
56,844,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7520:Ctnnal1
|
UTSW |
4 |
56,837,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7547:Ctnnal1
|
UTSW |
4 |
56,817,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7671:Ctnnal1
|
UTSW |
4 |
56,837,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Ctnnal1
|
UTSW |
4 |
56,847,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Ctnnal1
|
UTSW |
4 |
56,813,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8697:Ctnnal1
|
UTSW |
4 |
56,838,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8809:Ctnnal1
|
UTSW |
4 |
56,835,374 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9649:Ctnnal1
|
UTSW |
4 |
56,865,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9739:Ctnnal1
|
UTSW |
4 |
56,816,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Ctnnal1
|
UTSW |
4 |
56,844,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9791:Ctnnal1
|
UTSW |
4 |
56,844,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2015-04-16 |
Incidental Mutation